Myotubular Myopathy (MTM or MM)

‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research

Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.

A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.

MTM: Genetic Testing Study Open

Cure CMD, in collaboration with the Congenital Muscle Disease International Registry (CMDIR), Valerion Therapeutics (formerly 4s3 Bioscience), the University of Chicago, University of Michigan and Boston Children's Hospital, is sponsoring a study to conduct genetic testing in people who may have myotubular

MDA Scientific Conference To Emphasize Therapy Development

The Muscular Dystrophy Association’s annual conference being held in Washington, D.C., on April 21-24, 2013, is centered on the theme Therapy Development for Neuromuscular Diseases: Translating Hope into Promise.

New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

MTM Mice Respond to Modified Myotubularin Protein Injections

Update (Jan. 10, 2013):This story has been updated with additional information about MDA funding of this and related research projects.

Facts About Myopathies

Last Updated: 
Tue, 12/01/2009 - 15:55

MTM — James Dowling, M.D., Ph.D.

MDA has awarded a research grant totaling $353,679 to James Dowling, assistant professor in the departments of pediatrics and neurology at the University of Michigan Medical Center in Ann Arbor. The funds will help support Dowling's research into potential therapies for myotubular myopathy (MTM).

For his latest line of research, Dowling has partnered with Christopher Pierson, an assistant professor in the department of neuropathology at Nationwide Children's Hospital in Columbus, Ohio.

CNM/MTM — Jocelyn Laporte, Ph.D.

MDA has awarded a research grant totaling $341,250 over three years to Jocelyn Laporte at the University of Strasbourg, France. The new funds will help support Laporte’s efforts to identify genes responsible for centronuclear/myotubular myopathies (CNM)/(MTM).

Study of Progression in CNM/MTM, CCD, Multiminicore Disease Is Open

Investigators at the University of Michigan in Ann Arbor are conducting a study of the progression of centronuclear myopathies (CNMs), including the type known as myotubular myopathy (MTM); central core disease (CCD) and multiminicore disease. The study is intended to:

MDA Awards $13.7 Million in Research Grants

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association's program.

The new grants were recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.